Results 31 to 40 of about 7,589 (245)

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation [PDF]

, 2014
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures
Amin R, Andrea Venerando, Angela Sepe, Anil Mehta, Anna Bossi, Anna Zolin, Antonella Tosco, Boyle MP BS, Carlo A Leone, Daniela De Stefano, Donaldson S., Fabiola De Gregorio, Fischer H, Gianni Bona, Gibson LE, Giuseppe De Rosa, Guido Kroemer, Illek B, Jayaraman S, Kerem B, Kerem Eithan HMO, Laura Salvadori, Legssyer R, Lorenzo A Pinna, Luigi Maiuri, Lukacs G, Maria C Maiuri, Massimo Pettoello-Mantovani, Masvidal L, Pharmaceuticals Cylene, Pharmaceuticals Cylene, Rosa Grassia, Speranza Esposito, Standardization of Spirometry, Stefano Guido, Stern M, Valeria R Villella, Valeria Raia, van Doorninck JH, Villella VR   +39 more
core   +4 more sources

Infantile nephropathic cystinosis [PDF]

Kidney International, 2008
CASE PRESENTATION A Caucasian girl, the product of a non-consanguineous union, was delivered after a full-term uneventful pregnancy with a birth weight of 4.1 kg. At 15 months, she presented to the emergency room with signs of a respiratory illness and was found to weigh 6.14 kg, below the 3rd percentile for age.
Vivette D. D'Agati, S. Jernigan, Michael B. Stokes   +2 more
openaire   +3 more sources

Cell therapy for cystinosis [PDF]

Nephrology Dialysis Transplantation, 2010
In the September 2009 issue of Blood, Syres et al. [1] report on syngeneic bone marrow cell (BMC) and haematopoietic stem cell (HSC) therapy as a successful treatment in a mouse model of cystinosis, an autosomal recessive metabolic disease caused by a defect in the transport of cystine across the lysosomal membrane. The accumulation of cystine crystals
Corinne Antignac, Corinne Antignac, Olivier Devuyst, Sara Terryn   +3 more
openaire   +4 more sources

Cysteamine inhibits lysosomal oxidation of low density lipoprotein in human macrophages and reduces atherosclerosis in mice [PDF]

, 2019
Background and aims: We have shown previously that low density lipoprotein (LDL) aggregated by vortexing is internalised by macrophages and oxidised by iron in lysosomes to form the advanced lipid/protein oxidation product ceroid.
Ahmad, Ahmad, Bachmanov, Baglione, Berliner, Besouw M, Bouazza, Dabbagh, David S. Leake, Devlin, Dohil, Dohil, El-Saadani, Esterbauer, Feroz Ahmad, Firth, Garner, Gerry, Goldstein, Heinemann, Javed, Jezegou, Jürgens, Kalatzis, Karunakaran, Khoo, Kritharides, Kuo, Leake, Lee, Liu, Marathe, Min-Oo, Mitchinson, Negre-Salvayre, Ojo, Omran, Oorni, Paigen, Palinski, Peter D. Weinberg, Pisoni, Portman, Quinn, Rajavashisth, Ruuth, Satchell, Schissel, Singh, Singh, Siow, Sneck, Steinberg, Steinberg, Tangirala, Tennezé, Tricon, Tsimikas, Ueda, Walters, Walters, Wen, Wilkins, Williams, Williams, Xu, Yichuan Wen, Yin, Yin, Yu, Yuan, Zahra Mohri, Zhang, Öörni   +73 more
core   +1 more source

Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

EMBO Molecular Medicine, 2015
Gennaro Napolitano, Jennifer L. Johnson, Jing He, Céline J. Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stéphanie Cherqui, Sergio Catz   +7 more
openalex   +3 more sources

Cystinosis and two rare mutations in CTNS gene: two case reports

Journal of Medical Case Reports, 2022
Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi, Fatemeh Sarlaki, Saeid Morovvati   +2 more
doaj   +1 more source

Low density lipoprotein oxidation by ferritin at lysosomal pH [PDF]

, 2018
Oxidation of low density lipoprotein (LDL) has been proposed to be involved in the pathogenesis of atherosclerosis. We have previously shown that LDL can be oxidised by iron in lysosomes.
Leake, David S., Ojo, Oluwatosin O.
core   +1 more source

Pulmonary dysfunction in children with Cystinosis: single center study, original article

Egyptian Pediatric Association Gazette, 2022
Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin.
Dina H. Hamed, Radwa Mohamed Abdel Halim, Mona Mohsen El Attar, Neveen A. Soliman, Hanan Mohsen Osman   +4 more
doaj   +1 more source

Halitosis in cystinosis patients after administration of immediate-release cysteamine bitartrate compared to delayed-release cysteamine bitartrate [PDF]

, 2012
Halitosis due to dimethylsulfide (DMS) generation is a major side effect of cysteamine in the treatment of cystinosis. Recently, an enteric coated formulation of cysteamine bitartrate (RP103) administered twice daily was demonstrated to be non-inferior ...
Besouw, Martine, Cornelissen, Elisabeth, Levtchenko, Elena, Rioux, Patrice, Tangerman, Albert   +4 more
core   +1 more source

Anaesthetic management of a child with cystinosis

Egyptian Journal of Anaesthesia, 2017
Cystinosis is a lysosomal storage disorder which is characterized by abnormal accumulation of amino acid cysteine. Cystinosis affects various tissues of the body and has several anesthetic implications.
Shilpi Verma, Vandana Sharma, Pradeep K. Bhatia, Nikhil Kothari   +3 more
doaj   +1 more source